Varaico: Literature-Extracted Genetic Variants

RECQL4

846 papers

RefSeq Summary

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation....

Pfam Domains

Drc1-Sld2aa 4–155UCSCDNA replication and checkpoint protein

DEADaa 125–295UCSCDEAD/DEAH box helicase

Helicase_Caa 326–452UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

RecQ like helicase 4

HGNC Alias Symbol

RecQ4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004260.4

p.Q281_A282del2

c.841_845del6

Surrounding Variants

1 paper

NM_004260.4

p.P285T

c.853C>A

1 paper

NM_004260.4

p.P285delFs

c.854delG

1 paper

NM_004260.4

p.S279S

c.837C>T

3 papers

NM_004260.4

p.S286delFs

c.857_858delCG

1 paper

NM_004260.4

p.E278*

c.832G>T

1 paper

NM_004260.4

p.G288R

c.862G>C

1 paper

NM_004260.4

p.G288R

c.862G>A

1 paper

NM_004260.4

p.A289fs

c.865_866fs

1 paper

NM_004260.4

p.A289delFs

c.865delC

1 paper

NM_004260.4

p.Q276fs

c.826_827fs

1 paper

NM_004260.4

p.V275_Q276Fs

c.825_826delinsGFs

1 paper

NM_004260.4

p.G290E

c.869G>A